Document Detail

Parental karyotype may reveal the source of a pregnancy loss even in the presence of a reportedly euploid fetal karyotype.
MedLine Citation:
PMID:  21071023     Owner:  NLM     Status:  In-Data-Review    
OBJECTIVE: To present a case of a fetal loss in which a normal fetal karyotype was obtained by banding studies. Identification of an abnormal maternal karyotype prompted subsequent reanalysis using fluorescence in situ hybridization (FISH).
DESIGN: Case report.
SETTING: University-affiliated IVF center.
PATIENT(S): A 32-year-old woman, G1 P0, underwent a fetal loss at 8 weeks, and a suction curettage was performed. The patient had a previous first-trimester loss.
INTERVENTION(S): The fetal tissue was evaluated by banding studies and found to be normal. Parental karyotyping was performed, and the fetal tissue was reanalyzed by FISH.
MAIN OUTCOME MEASURE(S): Analysis of fetal karyotype by targeted FISH.
RESULT(S): Maternal karyotype demonstrated a translocation [46,XX, t(8;10)(q24.3:q25.2)]. The fetal tissue was reanalyzed by FISH, and a segment of chromosome 10 was found on chromosome 8.
CONCLUSION(S): A normal fetal karyotype, as measured by banding, does not exclude a genetic etiology for pregnancy loss. In this case, maternal translocation prompted the genetics laboratory to search for a small segment of translocated extra chromosomal material. This demonstrated that despite the finding of a normal fetal karyotype, in some cases parental karyotyping may have value.
Lawrence Grunfeld; Benjamin Sandler; Tanmoy Mukherjee; Alan B Copperman
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Publication Detail:
Type:  Journal Article     Date:  2010-11-11
Journal Detail:
Title:  Fertility and sterility     Volume:  95     ISSN:  1556-5653     ISO Abbreviation:  Fertil. Steril.     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-02-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372772     Medline TA:  Fertil Steril     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1120.e9-1120.e10     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Department of Obstetrics and Gynecology, Mount Sinai Medical Center, New York, New York.
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